Angelman Syndrome

Historical information about Angelman syndrome is discussed on this page by Charles Williams. The photograph of Dr. Harry Angelman was taken circa 1990 during one of his visits to Gainesville. The other photographs were taken personally by Dr. Angelman and used for his initial scientific paper on the syndrome.

These are links on our site for various aspects of Angelman syndrome.


Historical Notes on Angelman Syndrome

I first became aware of the condition now called Angelman syndrome (AS) when my teaching professor, Dr. Jaime Frias, diagnosed the syndrome in 1978 in an adult woman. By 1980, we had to our surprise identified 6 individuals with this condition and they all lived in a mental retardation institution here in Gainesville so we believed that the syndrome was not a rare condition. We subsequently published on these cases (1982) and suggested that the condition be called Angelman syndrome (AS).

In 1986, I decided to establish the Angelman Research Group (ARG) for the purpose of facilitating research on and education about AS. At that time, AS was a syndrome of unknown cause and not even the deletion on chromosome 15 was known to be associated with it. The financial support for the ARG came from the Raymond C. Philips Research and Education Unit at the University of Florida. By 1990, the ARG would eventually become the U.S. Angelman Syndrome Foundation (ASF).

In 1986, I telephoned Dr. Angelman who was retired and living at that time near Portsmouth Harbor in southern England. It seemed essential to have Dr. Angelman’s affirmation and involvement in the ARG, so I was a bit nervous about the call as I was afraid that he might be annoyed by my unannounced calling. Of course, Dr. Angelman was delighted to talk and offered to help in any way possible. His wife, Audrey, was equally enthusiastic, especially about helping families who had a child with AS. Harry wanted to know all about the genetic research on the syndrome and was pleased to know that others were actually interested in it.

Dr. Angelman was a practicing general pediatrician who also had an interest in neurological conditions. Somewhat on his own, and notwithstanding the work load of a busy general pediatric practice, he also studied and pondered the problems of autism and of the “puppet children” he had first described (1965). He took early retirement, troubled by a hip arthritis problem, but as his notoriety increased and more AS parent organizations began to spring up around the world, his life would get busier. Audrey especially was active, corresponding with parents and AS organizations around the world. Harry was of quick wit and had a great sense of humor. He was articulate and spoke concisely and always to the point. He knew much about Spanish and Italian languages, and during his retirement he translated Italian medical textbooks (he learned Italian while in the military in World War II and served as a military physician for Italian prisoners housed in India ). Harry was happy to talk with families at any time and he regretted that there were so few medical treatments for AS but he was optimistic that genetic research would bring treatments and possibly a cure.

Harry Angelman visited the University of Florida on several occasions. Pictured below are Harry and Audrey accompanied by members of the Division of Genetics, Department of Pediatrics.

CAW, 2019

(Pictured: Christine Vause, Daniel Driscoll, Harry and Audrey Angelman, Chris Glen and Charles Williams)